ClinVar Miner

List of variants in gene ARID1B studied for Intellectual disability

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.4346G>A (p.Arg1449His) rs370064281 0.00006
NM_001374828.1(ARID1B):c.3194C>T (p.Pro1065Leu) rs370190261 0.00004
NM_001374828.1(ARID1B):c.5680G>A (p.Ala1894Thr) rs768478175 0.00002
NM_001374828.1(ARID1B):c.1943G>A (p.Arg648Gln) rs754042537 0.00001
NM_001374828.1(ARID1B):c.4610C>T (p.Pro1537Leu) rs530430137 0.00001
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup) rs797045268
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs) rs1417035592
NM_001374828.1(ARID1B):c.1619CGG[3] (p.Ala543del) rs757953295
NM_001374828.1(ARID1B):c.1693del (p.Gln565fs) rs1779015991
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.2051_2052insAA (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2496del (p.Gln833fs) rs1786823829
NM_001374828.1(ARID1B):c.3089+6C>T rs1203684217
NM_001374828.1(ARID1B):c.3245G>T (p.Gly1082Val) rs1303647267
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter) rs1554231836
NM_001374828.1(ARID1B):c.4990C>T (p.Gln1664Ter) rs1554235882
NM_001374828.1(ARID1B):c.5394+1G>C rs1057518984
NM_001374828.1(ARID1B):c.6823del (p.Gln2275fs) rs1794563443

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